Thread by @IStedman

February 29 (the rarest day) is #RareDiseaseDay and this matters a great deal. It matters to me and my family, but also to millions of others who have stories similar to ours. If you follow me on @Twitter, you probably know some of my story.

I don’t want to bore you by telling it again, but I do want to talk a bit about what I’ve learned since my #diagnosis and since becoming a #RareDisease #advocate.

The first thing I learned was that even though it was a relief to have a diagnosis...(i.e. some sort of validation that there was a reason I didn’t feel well my whole life), it was really really hard to come to terms with having this new label.

While I had always been sick, it hadn’t defined me. Having something to label my #symptoms with shouldn’t define me either. I was already a lawyer when I was Dx'ed with #MuckleWellsSyndrome in mid-2014 & I was afraid that going public w\ my diagnosis would hurt my career.

Why? Because there is #NoCure and the medicine to take my symptoms away costs $16,000 every 8 weeks. Without the medicine, there is a well-documented and significant risk of death. Who would want to hire me knowing that?

I was so afraid of going public that I agreed to film a promotional video with @Novartis (the co. that makes the medicine I take) but I refused to let them use my name or show my face. They never did use that video, but they sent me edited & unedited copies (more on that later).

My daughter had the same diagnosis (more later) & OUR doctor at @SickKidsnews was in the Novartis video with us. He knew I was still timid then, but graciously persisted in offering me new opportunities to advocate afterwards.

Dr. Laxer introduced me to @Durhane at the Canadian Organization for Rare Disorders @raredisorders and she generously started to offer me opportunities as well.

It was in November 2015 that two important things happened. First, this story was featured by @healthydebate: healthydebate.ca/2015/11/topic/…

Second, I went to #QueensPark & told our story to the press before @Michaelharrispc advanced a Private Member’s Motion urging @ONgov to create an all-party committee to address the hurdles of Dx & Tx for people with rare diseases: thestar.com/news/canada/20…

That was when I realized I had to stop worrying about myself because what really mattered was my daughter’s future. We had great family support too, so I could go public & take risks that maybe others couldn’t. Because of this, I felt I owed it to my daughter to keep going.

2016 was also a leap year and it was the first Rare Disease Day that I started to actively advocate. Dr. Ron Laxer and I co-wrote short pieces for the SickKids website about
“How my daughter’s rare disease diagnosis saved my life”
sickkids.ca/AboutSickKids/…

That went well & Dr. Laxer immediately reached out to @NightShiftMD to convince him to feature our story on his incredible @cbcradio show @cbcwhitecoat. “Man Googles Rash, discovers he has one-in-a-million rare disease” aired on September 23, 2016: cbc.ca/radio/whitecoa…

The @cbcwhitecoat show turned out fantastic and it really helped me to feel empowered. So I posted that unedited Novartis video on Youtube after all!

That in turn led to an interview for the Rare Genomics Institute that they posted on youtube in September 2017:

I was now confidently generating more and more content that people could find - and my world hadn't crumbled around me! So I built a website for canadiancapsnetwork.com and starting a CAPS Twitter account, see @CdnCAPSNet.

I had also been working to learn more about the broader rare disease community (it helps not to feel so alone!) and I was now on the board of directors for @raredisorders. I was lucky to get to attend & speak regularly at their events.

This helped me to grow my network and led to me becoming fascinated by the work of Dr. Michael Brudno at @UofTNews. Dr. Brudno invited me to join him in October 2018 when we testified before the House's Standing Committee on Health in Ottawa:
ourcommons.ca/Content/Commit…

I had left my job in 2015 and returned to grad school at @OsgoodeNews. One of my goals in going back to school was to learn more and hopefully build an expertise that bridged my academic interests with my personal story and advocacy around rare diseases.

I’ve been lucky & worked hard & I have had the privilege of being given some amazing platforms from which to tell our story. For example, at the @McGill_rareDIG #RareDiseaseDay event in 2019 I gave a talk called
“Dr. Google and the Standard of Care”

Thinking more academically now, I collaborated with the amazing @ErikaKleiderman on a paper published in August 2019 called “Human germline genome editing is illegal in Canada, but could it be desireable for some members of the rare disease community?”
link.springer.com/article/10.100…

I could go on and on describing all the amazing people I have met and all the amazing opportunities I have had to raise awareness since our diagnosis, but that’s not really what this thread is about.

This thread is about me remembering how important it has been to tell my story. Not everybody gets the chances I have been given. I am beyond grateful. I hope my story helps put a face on some of the challenges that the #RareDisease community has been drawing attention to.

But the most important thing I can say on this rarest of days is that despite everything I have been able to do, still barely anyone knows the name of my disease. It is rare. Very rare. Which mean relatively few people have it. Raising awareness is very much an uphill battle.

No matter how hard most of our #RareDisease communities work to raise #awareness, it often feels like it isn't enough. Advocacy is a lifelong commitment & it is hard work. I too feel every morning like I haven't done enough & I that feeling is worse when I go to bed at night.

So thank you to everyone who follows me on this platform. In some small way you are helping me to raise awareness through your engagement with the things I post.

Please find the time to learn more about #RareDiseases. Consider donating to @CORD and/or @rarediseasefdn or to disease-specific groups that have helped you or someone you love. And have a happy, awareness raising #rarediseaseday2020!